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Požymis
Smooth philtrum
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Santrauka
- Taip pat vadinama
- Decreased depth of philtrum, Flat philtrum, Indistinct philtrum, Philtrum, smooth, Shallow philtrum, Simple philtrum
- Kūno sistema
- Abnormality of head or neck
Smooth philtrumHP:0000319
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Read the genes linked to Smooth philtrum, and the rest of your genome, with one test.
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Įsigyti savo Genome Test218 genų susiję su Smooth philtrum
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Smooth philtrum. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Visada | 2 ligose |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ATP9AATPase phospholipid transporting 9A | Visada | 1 ligoje |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Visada | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Visada | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Visada | 1 ligoje |
| DHX9DExH-box helicase 9 | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| HOXB1homeobox B1 | Visada | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IRX5iroquois homeobox 5 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NBNnibrin | Visada | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Visada | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| RECQLRecQ like helicase | Visada | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Visada | 2 ligose |
| SMSspermine synthase | Visada | 2 ligose |
| SPOPspeckle type BTB/POZ protein | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Visada | 2 ligose |
| TCP1t-complex 1 | Visada | 1 ligoje |
Rodyti dar 178 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TGFB3transforming growth factor beta 3 | Visada | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| WDR37WD repeat domain 37 | Visada | 1 ligoje |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Labai dažnai (80–99%) | 3 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Labai dažnai (80–99%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Labai dažnai (80–99%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Labai dažnai (80–99%) | 1 ligoje |
| CD96CD96 molecule | Labai dažnai (80–99%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 2 ligose |
| MAPK1mitogen-activated protein kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NUP107nucleoporin 107 | Labai dažnai (80–99%) | 2 ligose |
| RELREL proto-oncogene, NF-kB subunit | Labai dažnai (80–99%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 2 ligose |
| XPO1exportin 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Labai dažnai (80–99%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Dažnai (30–79%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Dažnai (30–79%) | 1 ligoje |
| CERT1ceramide transporter 1 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 2 ligose |
| CSNK2Bcasein kinase 2 beta | Dažnai (30–79%) | 1 ligoje |
| DYMdymeclin | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Dažnai (30–79%) | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Dažnai (30–79%) | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Dažnai (30–79%) | 2 ligose |
| KDM5Blysine demethylase 5B | Dažnai (30–79%) | 1 ligoje |
| LEMD2LEM domain nuclear envelope protein 2 | Dažnai (30–79%) | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MEIS2Meis homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Dažnai (30–79%) | 1 ligoje |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 2 ligose |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| POLR3GLRNA polymerase III subunit GL | Dažnai (30–79%) | 1 ligoje |
| PTPRFprotein tyrosine phosphatase receptor type F | Dažnai (30–79%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| QRICH1glutamine rich 1 | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 2 ligose |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 2 ligose |
| SIN3ASIN3 transcription regulator family member A | Dažnai (30–79%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 2 ligose |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| STEEP1STING1 ER exit protein 1 | Dažnai (30–79%) | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Dažnai (30–79%) | 1 ligoje |
| TASP1taspase 1 | Dažnai (30–79%) | 1 ligoje |
| THOC6THO complex subunit 6 | Dažnai (30–79%) | 1 ligoje |
| THSD1thrombospondin type 1 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM147transmembrane protein 147 | Dažnai (30–79%) | 1 ligoje |
| TPRtranslocated promoter region, nuclear basket protein | Dažnai (30–79%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP2tubulin gamma complex component 2 | Dažnai (30–79%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 2 ligose |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 2 ligose |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CLIC2CLIC family member 2 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DDX6DEAD-box helicase 6 | Kartais (5–29%) | 1 ligoje |
| DHPSdeoxyhypusine synthase | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 2 ligose |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 2 ligose |
| FAR1fatty acyl-CoA reductase 1 | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KDM5Alysine demethylase 5A | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 2 ligose |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Kartais (5–29%) | 2 ligose |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 2 ligose |
| PGM2L1phosphoglucomutase 2 like 1 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 2 ligose |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 2 ligose |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SRRM2serine/arginine repetitive matrix 2 | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 2 ligose |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Kartais (5–29%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TTI1TELO2 interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Kartais (5–29%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| H3-3AH3.3 histone A | Retai (1–4 %) | 1 ligoje |
| KIF7kinesin family member 7 | Retai (1–4 %) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Retai (1–4 %) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Neužfiksuota | 1 ligoje |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| MAB21L1mab-21 like 1 | Neužfiksuota | 1 ligoje |
| MAFMAF bZIP transcription factor | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MED13mediator complex subunit 13 | Neužfiksuota | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Neužfiksuota | 1 ligoje |
| PAX3paired box 3 | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| SETD5SET domain containing 5 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SLC45A1solute carrier family 45 member 1 | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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